The study is currently in progress.
If your centre has cared for patients with MAGT1 mutations please reach out to Prof. Dr Safa Baris or Dr. Ezgi Yalcin Gungore (for more information and contacts please refer to the invitation to participate above). The collection of data will be until end of July 2025.
Proposed by: Prof. Dr. Safa Baris, Dr. Ezgi Yalcin Gungore
MAGT1 deficiency is an X-linked immunodeficiency first described in the context of immune dysregulation, impaired NK cell function, and susceptibility to EBV-related malignancies. Despite being a recognized IEI, there is limited systematic data available on the phenotypic spectrum, clinical outcomes, and treatment responses of affected patients. Currently 33 patients from different centers located in Turkey
(unpublished) are collected. Presenting comprehensive data will require more MAGT1-deficient patients. Therefore, patients from ESID database will contribute to improved understanding of the disorder and guide future therapeutic approaches.
